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Article

Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.

American journal of medical genetics. Part A - 1 Jul 2012

Goh Elaine Suk-Ying, Perez Irene C, Canales Cesar P, Ruiz Phillip, Agatep Ron, Yoon Grace, Chitayat David, Dror Yigal, Shago Mary, Goobie Sharan, Sgro Michael, Walz Katherina, Mendoza-Londono Roberto

Abstract excerpt

Potocki-Lupski syndrome is a genomic disorder caused by duplication of 17p11.2. It is characterized by failure to thrive, intellectual disability, hypotonia, and behavioral difficulties. Structural renal anomalies have been observed in <10% of affected individuals. We present detailed clinical an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22639462
DOI: 10.1002/ajmg.a.35399

Genes

FLCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22639462-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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